High-throughput sequencing has ushered in a diversity of approaches for identifying genetic
variants and understanding genome structure and function. When applied to individuals with …

Whole exome sequencing presents a powerful tool to study rare genetic disorders. The most
challenging part of using exome sequencing for the purpose of disease-causing variant …

Recent advances in next-generation sequencing technologies have brought a paradigm
shift in how medical researchers investigate both rare and common human disorders. The …

Over the past decade, exome sequencing (ES) has allowed significant advancements to the
field of disease research. By targeting the protein-coding regions of the genome, ES …

Exome sequencing—the targeted sequencing of the subset of the human genome that is
protein coding—is a powerful and cost-effective new tool for dissecting the genetic basis of …

Recent advances in next-generation sequencing technologies have transformed the
genetics study of human diseases; this is an era of unprecedented productivity. Exome …

While exome sequencing (ES) is commonly the final diagnostic step in clinical genetics, it
may miss diagnoses. To clarify the limitations of ES, we investigated the diagnostic yield of …

The recent advent of next-generation sequencing technologies has dramatically changed
the nature of biomedical research. Human genetics is no exception-it has never been easier …

Two years ago, NIH's Undiagnosed Diseases Program began delivering genomics to the
clinic on an unprecedented scale. Now, with 128 exomes sequenced and 39 rare diseases …

Whole exome sequencing is commonly used as clinical exome in almost every hospital to
diagnose rare and complex genetic disorders. Still, there are a lot of undiagnosed patients …